Gain of function in CDKN1C (728 views)
Nature Genetics (ISSN: 1061-4036), 2012 Jul; 44(7): 737-738.
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Paper type: Journal Article, Comment, News,
Impact factor: 35.209, 5-year impact factor: 34.52
Url: http://www.scopus.com/inward/record.url?eid=2-s2.0-84862980829&partnerID=40&md5=c674874c89ccb2b509378cbe71541bec
Keywords: Adrenal Hyperplasia, Congenital Genetics, Animals, Cyclin-Dependent Kinase Inhibitor P57 Genetics, Female, Fetal Growth Retardation Genetics, Genetic Diseases, X-Linked Genetics, Humans, Mutation, Osteochondrodysplasias Genetics, Proliferating Cell Nuclear Antigen Metabolism, Article, Cyclin Dependent Kinase Inhibitor 1c Gene, Gene Expression, Gene Function, Genetic Association, Genetic Disorder, Image Syndrome, Loss Of Function Mutation, Missense Mutation, Phenotype, Priority Journal, Ubiquitination, Cell Transplantation, Cellular Therapy, Embryonic Stem Cells, Neural Differentiation, Parkinson, S Disease, Activin Receptor 1, Glycosylphosphatidylinositol, Peptide, Peptide Library, Tetramer, Tripeptide, Animal Cell, Animal Experiment, Animal Model, Animal Tissue, Carcinogenesis, Cell Differentiation, Combinatorial Library, Controlled Study, Convalescence, Corpus Striatum, Dopaminergic Nerve Cell, Embryo Cell, Engraftment, Genetic Manipulation, In Vitro Study, In Vivo Study, Integration, Mesencephalon, Mouse, Mouse Embryo, Nerve Cell Differentiation, Neuroectoderm, Nonhuman, Parkinson Disease, Signal Transduction, Disease Models, Epidermal Growth Factor, Membrane Glycoproteins, Neoplasm Proteins, Oligopeptides, Protein Binding, Reverse Transcriptase Polymerase Chain Reaction, Stem Cell Transplantation, Rattus, β-Cyclodextrins, Conformation, Monofunctionalized Cyclodextrins, Solid State Structure, Synthesis,
Affiliations:
*** IBB - CNR ***
Department of Environmental Science, Second University of Naples, Naples, Italy
Institute of Genetics and Biophysics A. Buzzati-Traverso, Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy
Department of Structural and Functional Biology, University of Naples Federico II, Naples, Italy
Stem Cell Fate Laboratory, Institute of Genetics and Biophysics, A. Buzzati-Traverso, CNR, Via Pietro Castellino 111, 80,131 Naples, Italy
Laboratory of Molecular Neurobiology, Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden
Florey Neuroscience Institutes, University of Melbourne, Parkville, VIC, Australia
Centre for Neurosciences, University of Melbourne, Parkville, VIC, Australia
Department of Biological Science, University of Naples, Napoli, Italy
Institute of Biostructure and Bioimaging, CNR, Naples, Italy
Dipartimento di Chimica, Università della Basilicata, Via N. Sauro 85, 85100 Polenza, Italy
Biocrystallography Research Centre, C.N.R., Univ. Federico II di Napoli, via Mezzocannone, 4, 80134 Napoli, Italy
Department Pharmaceutical Chemistry, University of London, Brunswick Square 29, WC IN 1AX London, United Kingdom
Institut de Chimie, Université de Neuchâtel, Av. de Bellevaux 51, 2000 Neuchâtel, Switzerland
Dipartimento di Scienze Chimiche, Università di Catania, V.le A. Doria 8, 95125, Catania, Italy
Ist. Stud. delle Sostanze N., V.le A. Doria 8, 95125 Catania, Italy
References:
Not available.
Nature Genetics (ISSN: 1061-4036), 2012 Jul; 44(7): 737-738.
Export to BibTeX Export to EndNote
Paper type: Journal Article, Comment, News,
Impact factor: 35.209, 5-year impact factor: 34.52
Url: http://www.scopus.com/inward/record.url?eid=2-s2.0-84862980829&partnerID=40&md5=c674874c89ccb2b509378cbe71541bec
Keywords: Adrenal Hyperplasia, Congenital Genetics, Animals, Cyclin-Dependent Kinase Inhibitor P57 Genetics, Female, Fetal Growth Retardation Genetics, Genetic Diseases, X-Linked Genetics, Humans, Mutation, Osteochondrodysplasias Genetics, Proliferating Cell Nuclear Antigen Metabolism, Article, Cyclin Dependent Kinase Inhibitor 1c Gene, Gene Expression, Gene Function, Genetic Association, Genetic Disorder, Image Syndrome, Loss Of Function Mutation, Missense Mutation, Phenotype, Priority Journal, Ubiquitination, Cell Transplantation, Cellular Therapy, Embryonic Stem Cells, Neural Differentiation, Parkinson, S Disease, Activin Receptor 1, Glycosylphosphatidylinositol, Peptide, Peptide Library, Tetramer, Tripeptide, Animal Cell, Animal Experiment, Animal Model, Animal Tissue, Carcinogenesis, Cell Differentiation, Combinatorial Library, Controlled Study, Convalescence, Corpus Striatum, Dopaminergic Nerve Cell, Embryo Cell, Engraftment, Genetic Manipulation, In Vitro Study, In Vivo Study, Integration, Mesencephalon, Mouse, Mouse Embryo, Nerve Cell Differentiation, Neuroectoderm, Nonhuman, Parkinson Disease, Signal Transduction, Disease Models, Epidermal Growth Factor, Membrane Glycoproteins, Neoplasm Proteins, Oligopeptides, Protein Binding, Reverse Transcriptase Polymerase Chain Reaction, Stem Cell Transplantation, Rattus, β-Cyclodextrins, Conformation, Monofunctionalized Cyclodextrins, Solid State Structure, Synthesis,
Affiliations:
*** IBB - CNR ***
Department of Environmental Science, Second University of Naples, Naples, Italy
Institute of Genetics and Biophysics A. Buzzati-Traverso, Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy
Department of Structural and Functional Biology, University of Naples Federico II, Naples, Italy
Stem Cell Fate Laboratory, Institute of Genetics and Biophysics, A. Buzzati-Traverso, CNR, Via Pietro Castellino 111, 80,131 Naples, Italy
Laboratory of Molecular Neurobiology, Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden
Florey Neuroscience Institutes, University of Melbourne, Parkville, VIC, Australia
Centre for Neurosciences, University of Melbourne, Parkville, VIC, Australia
Department of Biological Science, University of Naples, Napoli, Italy
Institute of Biostructure and Bioimaging, CNR, Naples, Italy
Dipartimento di Chimica, Università della Basilicata, Via N. Sauro 85, 85100 Polenza, Italy
Biocrystallography Research Centre, C.N.R., Univ. Federico II di Napoli, via Mezzocannone, 4, 80134 Napoli, Italy
Department Pharmaceutical Chemistry, University of London, Brunswick Square 29, WC IN 1AX London, United Kingdom
Institut de Chimie, Université de Neuchâtel, Av. de Bellevaux 51, 2000 Neuchâtel, Switzerland
Dipartimento di Scienze Chimiche, Università di Catania, V.le A. Doria 8, 95125, Catania, Italy
Ist. Stud. delle Sostanze N., V.le A. Doria 8, 95125 Catania, Italy
References:
Not available.
Gain of function in CDKN1C
Loss-of-function mutations in the gene encoding the cyclin-dependent kinase inhibitor CDKN1C cause Beckwith-Wiedemann syndrome and cancer. A new study now identifies potentially gain-of-function missense mutations in CDKN1C that cause the undergrowth-associated IMAGe syndrome.
Loss-of-function mutations in the gene encoding the cyclin-dependent kinase inhibitor CDKN1C cause Beckwith-Wiedemann syndrome and cancer. A new study now identifies potentially gain-of-function missense mutations in CDKN1C that cause the undergrowth-associated IMAGe syndrome.
Gain of function in CDKN1C
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Gain of function in CDKN1C
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Calvanese L, D'Auria G, Vangone A, Falcigno L, Oliva R
* Structural Basis for Mutations of Human Aquaporins Associated to Genetic Diseases (477 views)
Int J Mol Sc (ISSN: 1422-0067linking, 1422-0067electronic, 1661-6596), 2018 May 25; 19(6): N/D-N/D.
Impact Factor: 3.687
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Simonetti I, Trovato P, Verde F, Tarotto L, Della Casa R, Lonardo MC, Vallone G, Caprio MG
* A rare case of hydrometrocolpos from persistent urogenital sinus in patient affected by adrenogenital syndrome (803 views)
J Ultrasound (ISSN: 1876-7931electronic, 1876-7931linking, 1971-3495), 2018 Mar 3; 21(3): 249-252.
Impact Factor: 1.547
View Export to BibTeX Export to EndNote
* Structural Basis for Mutations of Human Aquaporins Associated to Genetic Diseases (477 views)
Int J Mol Sc (ISSN: 1422-0067linking, 1422-0067electronic, 1661-6596), 2018 May 25; 19(6): N/D-N/D.
Impact Factor: 3.687
View Export to BibTeX Export to EndNote
Simonetti I, Trovato P, Verde F, Tarotto L, Della Casa R, Lonardo MC, Vallone G, Caprio MG
* A rare case of hydrometrocolpos from persistent urogenital sinus in patient affected by adrenogenital syndrome (803 views)
J Ultrasound (ISSN: 1876-7931electronic, 1876-7931linking, 1971-3495), 2018 Mar 3; 21(3): 249-252.
Impact Factor: 1.547
View Export to BibTeX Export to EndNote
2 Records (2 excluding Abstracts).
Total impact factor: 5.234 (5.234 excluding Abstracts).
Total 5 year impact factor: 2.617 (2.617 excluding Abstracts).
Total impact factor: 5.234 (5.234 excluding Abstracts).
Total 5 year impact factor: 2.617 (2.617 excluding Abstracts).
728 views. Last view on Saturday 26 April 2025, 14:47:20
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